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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation S100A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit?

The purpose of this study is to evaluate the effect of post-partum maternal vitamin A supplementation on breast milk bioactive compounds and immune status, growth and morbidity of children in the first four months of life.

NCT02043223
Conditions
  1. Vitamin A Deficiency
Interventions
  1. Dietary Supplement: Vitamin A (<3-day postpartum)
  2. Dietary Supplement: Vitamin A (6 wk postpartum)
  3. Dietary Supplement: Vitamin A (<3-day and 6 wk postpartum)
  4. Dietary Supplement: Placebo
MeSH:Night Blindness Vitamin A Deficiency
HPO:Low levels of vitamin A Nyctalopia

human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination). --- S100A ---

Primary Outcomes

Description: immune regulators in breast milk e.g. B-cell activating factor (BAFF); IL-7; Lactoferrin; sCD14, sIgA and TGF-beta levels at three time points- < 3-day postpartum (before 1st dose of supplementation) 7 wk postpartum (1wk after 2nd dose of supplementation) 15 wk postpartum

Measure: Breast milk immune regulators

Time: Four months

Secondary Outcomes

Description: Mitogen stimulated whole blood IL-10, IL-13, IFN-gamma, IL-21 and IL-17 responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant T helper cell immune responses

Time: Four months

Description: Tall like receptor (TLR)-4 and TLR9 agonist stimulated whole blood TNF-alpha and IL-10 and IFN-alpha responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant innate immune responses

Time: Four months

Description: Hepatitis B and Tetanus Toxoid specific plasma cell IgG responses at 15 wk of age (1wk after three doses of pentavalent vaccination) And Hepatitis B and Tetanus Toxoid specific IgG in plasma and Polio (3 serotypes) specific secretory IgA (sIgA) in stool at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant vaccines (Hepatitis B, Tetanus and Oral polio) specific antibody responses

Time: Four months

Description: Next generation sequencing (NGS) of bacterial 16s rDNA (+qPCR) in extracted stool samples and assessment of infant gut inflammatory markers e.g. human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Relative abundance of infant gut microbial community and gut inflammatory markers

Time: Four months

Other Outcomes

Description: Infant plasma vitamin A status at 7 wk and 15 wk of age

Measure: Infant vitamin A status

Time: Four months

Description: Infant Weight-for-Age z-score (WAZ) at 7 wk and 15 wk of age

Measure: Infant growth

Time: Four months

Description: Infant morbidity status up to four months of age

Measure: Infant morbidity

Time: Four months

Description: Plasma Retinol Binding Protein (RBP) and breast milk vitamin A level at two time points- < 3-day postpartum (before 1st dose of supplementation) 15 wk postpartum

Measure: Mother vitamin A status

Time: Four months


HPO Nodes


HP:0000662: Nyctalopia
Genes 312
NR2E3 CIB2 SNRNP200 CWC27 ABCA4 ITM2B RBP3 PEX5 PEX11B NR2E3 HSD3B7 ARL3 FAM161A CRX PHYH LRAT TUB PRPH2 RPGRIP1 PRPF4 RP2 ARL3 KIAA1549 AGBL5 NEK2 PRPF3 PDE6B PRPH2 TOPORS RDH12 IFT172 ARL2BP CNGA1 RLBP1 SAG OAT PROM1 MVK GNB3 TRNS2 ARL3 ARHGEF18 GUCY2D ABCA4 C1QTNF5 CEP78 LRAT C8ORF37 CRX SEMA4A SEMA4A BBS2 CDHR1 GRK1 SLC7A14 ARL6 BEST1 C8ORF37 HK1 NYX PRPF4 TTC8 CFAP410 GUCY2D SCAPER ZNF408 CACNA1F GUCA1A CA4 AIPL1 CLRN1 GRM6 PROM1 AIPL1 PRPH2 NRL PDE6A PRCD DHX38 CNGB1 IFT172 RHO RNU4ATAC RLBP1 RHO BEST1 PROM1 USH2A CLCC1 SLC7A14 AP3D1 OPN1LW DRAM2 POC1B CACNA2D4 KIF3B RP1 PCARE FSCN2 FAM161A DRAM2 GUCY2D RLBP1 HGSNAT ABCA4 SAG GNB3 KCNJ13 ZNF513 PDE6A GNAT1 PEX19 TTPA COG4 PEX2 CABP4 LRAT KIZ BEST1 GRM6 PRPF31 GUCY2D CDHR1 RPE65 ZNF408 REEP6 STIM1 CDH23 CRX RLBP1 CHM PITPNM3 PRPF3 RAX2 RHO POMGNT1 MAK CACNA1F SAG IMPG2 SEMA4A PEX13 CABP4 C8ORF37 TTLL5 PRPF8 SAG KCNV2 MTTP MERTK TRAPPC9 CDHR1 RPGR RP1L1 UNC119 BBS4 ROM1 CNGB3 CACNA2D4 MMP19 GGCX CLRN1 PEX1 PEX12 SPATA7 IMPG2 ZNF513 TRPM1 VPS13B RP1 ARSG TULP1 NR2E3 GRK1 RPGR CYP4V2 SLC24A1 AGBL5 POU3F4 TULP1 RLBP1 REEP6 NMNAT1 AHR GNAT1 CRX SPATA7 CRB1 PEX3 ROM1 ABCA4 CA4 HARS1 ROM1 MYO6 ESPN RP9 IMPDH1 RAB28 MERTK FLVCR1 PRPF31 KLHL7 PRPF6 HADHA CLRN1 ELOVL4 ADAM9 RPGR CNGA3 CHM GPR179 CFAP410 USH1G PROM1 PEX14 GUCA1B PCARE NRL PDE6G NMNAT1 RBP3 GUCA1A OAT ARHGEF18 EYS RDH5 KIAA1549 RHO FLVCR1 PRPH2 TULP1 LRIT3 HGSNAT PDE6B PDE6B CNNM4 PEX26 CRB1 ADGRV1 CERKL NYX FGFR2 PEX6 MYO7A SLC24A1 RP9 GNAT1 POMGNT1 RIMS1 RHO IDH3A RP1L1 AHR USH1C SNRNP200 CNGA1 RPE65 CNGB1 CLRN1 EYS PDZD7 PEX7 TTC8 PDE6H IFT88 ARL6 PEX16 AHI1 RBP3 PRPF8 PRPH2 ATF6 SEMA4A MAK PCYT1A PRPH2 WHRN PHYH PROM1 CACNA1F CLRN1 PRPH2 RHO OFD1 ESPN DHDDS AIPL1 TRNT1 MFRP RGR FSCN2 RP2 PRPH2 RDH5 GPR179 IDH3B PEX10 PCDH15 USH2A MYO7A IMPDH1 OPN1MW PDE6G MFN2 C8ORF37 IFT140 LRIT3 CNGA1 RDH11 PEX7 TRPM1
Protein Mutations 1
S100A